Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Multiplatform Analysis of 12 Cancer Types Reveals Molecular Classification within and across Tissues of Origin

Recent genomic analyses of pathologically-defined tumor types identify “within-a-tissue” disease subtypes. However, the extent to which genomic signatures are shared across tissues is still unclear. We performed an integrative analysis using five genome-wide platforms and one proteomic platform on 3,527 specimens from 12 cancer types, revealing a unified classification into 11 major subtypes. Five subtypes were nearly identical to their tissue-of-origin counterparts, but several distinct cancer types were found to converge into common subtypes. Lung squamous, head & neck, and a subset of bladder cancers coalesced into one subtype typified by TP53 alterations, TP63 amplifications, and high expression of immune and proliferation pathway genes. Of note, bladder cancers split into three pan-cancer subtypes. The multi-platform classification, while correlated with tissue-of-origin, provides independent information for predicting clinical outcomes. All datasets are available for data-mining from a unified resource to support further biological discoveries and insights into novel therapeutic strategies

Assessment of Seasonal Variation on Physicochemical and Microbiological Quality of Drinking Water at Mannuthy, Kerala

ABSTRACT A study was conducted to assess seasonal variation in physicochemical and microbiological quality of drinking water at Mannuthy in Thrissur district of Kerala state. A total of 100 well water samples, 25 each during four different seasons, viz. summer, pre-monsoon, monsoon and post monsoon were collected during the year 2009 and analyzed for temperature, pH, total hardness, Chemical Oxygen Demand, concentration of nitrate, fluoride, iron, heavy metals like lead, mercury, zinc, cadmium, Aerobic Plate Count, Coliform count, Escherichia coli and Enterococcal counts. Significant difference between seasons could be observed in all parameters studied except Chemical Oxygen Demand, concentration of mercury and Escherichia coli and enterococcal counts. The results were compared with WHO guidelines, 2006 and Bureau of Indian Standards (IS: 10500, 1991) desirable limits for drinking water

Assessment of parasitic contamination of raw vegetables in Mannuthy, Kerala state, India

Aim: To assess the parasitic contamination of raw vegetables retailed at Mannuthy in Thrissur district of Kerala state, India. Materials and Methods: A total of 112 samples, viz. cabbage (17), mint (11), coriander leaves (11), spinach (15), onion (10), carrot (10), potato (10), ginger (15), beet root (7) and tomato (6) were collected from retail market at Mannuthy, Kerala. Collected samples were washed with physiological saline solution. The washings were collected and examined under light microscopy. Results: Helminthic eggs were detected in three (2.7%) of 112 samples. Two samples of cabbage (1.8%) and one sample of onion (0.9%) was positive for ova of Ascaris spp. Conclusion: Vegetables can act as potential source of gastrointestinal parasitic infections. The study emphasizes the need for proper washing of vegetables before they are consumed or cooked

Fluorescent carbon quantum dots for effective tumor diagnosis: A comprehensive review

The Fluorescent Carbon Quantum Dots (FCQDs) have been extensively explored for medical applications. Primarily, the research concentrated on diagnosis, imaging, and alternative therapeutics for various diseases. The FCQDs, a class of new-generation carbon nanoparticles with a size of less than 10 nm, demonstrate a quantum confinement effect. They have an atomic nature and inherent features like high photostability, variable photoluminescence (PL), high biocompatibility, and good water solubility. All these properties with minimum invasiveness have made quantum dots grab the spotlight in cancer diagnosis. The review introduces tunable fluorescence properties of quantum dots and provides a brief classification of FCQDs. Furthermore, the recent advances of FCQDs for tumor imaging and their refinements for futuristic applications are highlighted